Last minute request: Genetics

[Guest guest]

My ENT won't remove my son's adenoids/tonsils (for obstructive sleep apnea)

until he feels comfortable that all of the genetics testing is done and he

understands what the cause was of my son's hypotonia/dysarthia/apraxia.?? My son

has already had some basic genetics testing which was requested by my

neurologist and it didn't show anything.??? She wants us to go to a geneticist

but they are in very short supply in Orlando and I can't get in until late

November.??? As some of these tests can take weeks to get results this could

push us past the end of the year for any possible surgery with the ENT.???? I

really don't want this to happen because we?have met?our deductible for the year

and it starts fresh next year.??? If I had to pay for surgery this would

decrease the amount of private?speech therapy we could pay for which just can't

happen.??

?I see the neurologist tomorrow and was thinking of telling her some tests that

might be run in addition to those she already did if any parents have any

suggestions of things that showed up for their children in the genetics

realm??????? I would need children with similar symptoms (Hypotonia or dysarthia

combined with apraxia).??? He does not have autism or anything else that we can

see evidenced at this point.??? The only thing I have on my list so far is to

check for FOXP2.

Thanks for your help!

Sue

[Guest guest]

In my area- the trends- or whatever the heck- IS NOT TO REMOVE by doc standards.

Most ENTs won't remove them- is this why they are giving you a hard time down in

Florida- maybe same thing?

I know someone with a " special " list who will do the surgeries in PA/NJ area-but

none are by you. I would try to see if you can find different doc..you shouldn't

need all that additional testing for proof..for what??

>

>

> My ENT won't remove my son's adenoids/tonsils (for obstructive sleep apnea)

until he feels comfortable that all of the genetics testing is done and he

understands what the cause was of my son's hypotonia/dysarthia/apraxia.?? My son

has already had some basic genetics testing which was requested by my

neurologist and it didn't show anything.??? She wants us to go to a geneticist

but they are in very short supply in Orlando and I can't get in until late

November.??? As some of these tests can take weeks to get results this could

push us past the end of the year for any possible surgery with the ENT.???? I

really don't want this to happen because we?have met?our deductible for the year

and it starts fresh next year.??? If I had to pay for surgery this would

decrease the amount of private?speech therapy we could pay for which just can't

happen.??

>

>

>

> ?I see the neurologist tomorrow and was thinking of telling her some tests

that might be run in addition to those she already did if any parents have any

suggestions of things that showed up for their children in the genetics

realm??????? I would need children with similar symptoms (Hypotonia or dysarthia

combined with apraxia).??? He does not have autism or anything else that we can

see evidenced at this point.??? The only thing I have on my list so far is to

check for FOXP2.

>

>

>

> Thanks for your help!

>

>

>

> Sue

>

>

>

[Guest guest]

My 8dd had a basic genetic test done at birth--the one that all babies get. She

wasnt holding up her head at 3mos. We knew there was more to it. It wasnt until

we went to a genetics doctor that did more than the basic, that he found she has

a deletion on Chromosome 2. She has Hypotonia- which has now been classified as

CP. She has severe Apraxia!

It might be worth putting off surgery until you can get better genetic testing

done. They told us when she was about 2yrs old about the deletion. The genetics

dr also told us that he sees a lot of kids with this type of deletion that have

apraxia and a LOT of her physical features too. We saw him again this past July.

they sent us again for more bloodwork. What the genetics counselor told me is

the technology has been refined even more than it was when she was a baby. They

can now pinpoint even more information about her deletion and in basic

terms--get an even closer look at the chromosomes.

I had an appt for my younger son in November for a specialist...they get

cancellations all the time! I got a call last week and they said--we have a

cancellation for tomorrow--can you be here? I made it work. If you get on their

list, let them know you'd like a sooner appt if it becomes available.

None of her doctors have ever suggested that type of surgery for her. Apraxia is

neurological-so surgery would never have helped her get where she is now. She is

speaking full sentences now.

good luck. I know its hard to wait it out.

>>

> ?I see the neurologist tomorrow and was thinking of telling her some tests

that might be run in addition to those she already did if any parents have any

suggestions of things that showed up for their children in the genetics

realm??????? I would need children with similar symptoms (Hypotonia or dysarthia

combined with apraxia).??? He does not have autism or anything else that we can

see evidenced at this point.??? The only thing I have on my list so far is to

check for FOXP2.

>

>

>

>

[Guest guest]

Thanks for all the great info. The surgery is for the apnea not the apraxia.

I am interested in the surgery though because several parents with children who

had apnea and apraxia saw improvements that were significant in speech as a side

benefit. Thanks for your feedback so much!

Sent from my Verizon Wireless BlackBerry

[ ] Re: Last minute request: Genetics

My 8dd had a basic genetic test done at birth--the one that all babies get. She

wasnt holding up her head at 3mos. We knew there was more to it. It wasnt until

we went to a genetics doctor that did more than the basic, that he found she has

a deletion on Chromosome 2. She has Hypotonia- which has now been classified as

CP. She has severe Apraxia!

It might be worth putting off surgery until you can get better genetic testing

done. They told us when she was about 2yrs old about the deletion. The genetics

dr also told us that he sees a lot of kids with this type of deletion that have

apraxia and a LOT of her physical features too. We saw him again this past July.

they sent us again for more bloodwork. What the genetics counselor told me is

the technology has been refined even more than it was when she was a baby. They

can now pinpoint even more information about her deletion and in basic

terms--get an even closer look at the chromosomes.

I had an appt for my younger son in November for a specialist...they get

cancellations all the time! I got a call last week and they said--we have a

cancellation for tomorrow--can you be here? I made it work. If you get on their

list, let them know you'd like a sooner appt if it becomes available.

None of her doctors have ever suggested that type of surgery for her. Apraxia is

neurological-so surgery would never have helped her get where she is now. She is

speaking full sentences now.

good luck. I know its hard to wait it out.

>>

> ?I see the neurologist tomorrow and was thinking of telling her some tests

that might be run in addition to those she already did if any parents have any

suggestions of things that showed up for their children in the genetics

realm??????? I would need children with similar symptoms (Hypotonia or dysarthia

combined with apraxia).??? He does not have autism or anything else that we can

see evidenced at this point.??? The only thing I have on my list so far is to

check for FOXP2.

>

>

>

>

[Guest guest]

perhaps you can have your pedi or neurologist recommend another Ent? speak to

the neuro's nurse and ask her to get a

recommendation to an ent at a large children's hospital that would be more

comfortable treating your child. we were referred from our ent to have my son's

tonsils and adenoids taken out by dallas children's hospital team. i had to

spend the night at the hospital with him instead of having outpatient surgery

because of my son's history of obstructive sleep apnea. everything went well and

he had no complications but i am still thankful that the drs used a more

cautious and conservative approach.

maybe your ent is concerned about a post operative breathing problem because of

your child's history of hypotonia. it is reassuring that your ent is being

careful.

blessings,

laura

Sent from my iPhone

On Sep 29, 2009, at 5:12 PM, NotefrmSue@... wrote:

My ENT won't remove my son's adenoids/tonsils (for obstructive sleep apnea)

until he feels comfortable that all of the genetics testing is done and he

understands what the cause was of my son's hypotonia/dysarthia/apraxia.?? My son

has already had some basic genetics testing which was requested by my

neurologist and it didn't show anything.??? She wants us to go to a geneticist

but they are in very short supply in Orlando and I can't get in until late

November.??? As some of these tests can take weeks to get results this could

push us past the end of the year for any possible surgery with the ENT.???? I

really don't want this to happen because we?have met?our deductible for the year

and it starts fresh next year.??? If I had to pay for surgery this would

decrease the amount of private?speech therapy we could pay for which just can't

happen.??

?I see the neurologist tomorrow and was thinking of telling her some tests that

might be run in addition to those she already did if any parents have any

suggestions of things that showed up for their children in the genetics

realm??????? I would need children with similar symptoms (Hypotonia or dysarthia

combined with apraxia).??? He does not have autism or anything else that we can

see evidenced at this point.??? The only thing I have on my list so far is to

check for FOXP2.

Thanks for your help!

Sue

[Guest guest]

I wanted to give you an update since you all were so helpful in giving me

feedback about genetics testing to take to my dr. appointment today.??? My

neurologist said when I went in that the ENT I went to is in her opinion the

best in the Orlando area.????? She said he has done many many of these surgeries

for apnea (Tonsillectomy and adenoids).???? She said though, which she wasn't

aware of previously that he actually was so cautious because of my sons

hypotonia /dysarthia/apraxia.????We don't have a?genetic diagnosis?showing the

cause of this?and there is no family history that we are aware of.???? Evidently

there are certain genetic disorders that can cause arteries to run through the

area where the tonsils/adenoids are.??? He knew of 2 cases (not his own clients)

where the patient actually died from bleeding complications because what was to

be a simple surgery ended up being something far more due to?a rare?genetic

condition.??? Thus his caution about the whole thing to understand what is the

cause of my sons problems prior to doing the surgery.?? After hearing all that I

am fine with doing even more genetic testing and ruling things out.?? I'm glad

he's such a thorough doctor and I appreciate all of the feedback you each

provided!

THANKS Again....you are all a lovely bunch of people to be so caring for one

another!

Sue

Re: [ ] Last minute request: Genetics

perhaps you can have your pedi or neurologist recommend another Ent? speak to

the neuro's nurse and ask her to get a

recommendation to an ent at a large children's hospital that would be more

comfortable treating your child. we were referred from our ent to have my son's

tonsils and adenoids taken out by dallas children's hospital team. i had to

spend the night at the hospital with him instead of having outpatient surgery

because of my son's history of obstructive sleep apnea. everything went well and

he had no complications but i am still thankful that the drs used a more

cautious and conservative approach.

maybe your ent is concerned about a post operative breathing problem because of

your child's history of hypotonia. it is reassuring that your ent is being

careful.

blessings,

laura

Sent from my iPhone

On Sep 29, 2009, at 5:12 PM, NotefrmSue@... wrote:

My ENT won't remove my son's adenoids/tonsils (for obstructive sleep apnea)

until he feels comfortable that all of the genetics testing is done and he

understands what the cause was of my son's hypotonia/dysarthia/apraxia.?? My son

has already had some basic genetics testing which was requested by my

neurologist and it didn't show anything.??? She wants us to go to a geneticist

but they are in very short supply in Orlando and I can't get in until late

November.??? As some of these tests can take weeks to get results this could

push us past the end of the year for any possible surgery with the ENT.???? I

really don't want this to happen because we?have met?our deductible for the year

and it starts fresh next year.??? If I had to pay for surgery this would

decrease the amount of private?speech therapy we could pay for which just can't

happen.??

?I see the neurologist tomorrow and was thinking of telling her some tests that

might be run in addition to those she already did if any parents have any

suggestions of things that showed up for their children in the genetics

realm??????? I would need children with similar symptoms (Hypotonia or dysarthia

combined with apraxia).??? He does not have autism or anything else that we can

see evidenced at this point.??? The only thing I have on my list so far is to

check for FOXP2.

Thanks for your help!

Sue